Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 0.500 8 2016 2019
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.080 0.500 8 2016 2019
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2017 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2017 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 1.000 2 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 1.000 2 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2016 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2017 2017
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.010 1.000 1 2015 2015
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 1.000 1 2018 2018
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2016 2016
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 1.000 1 2017 2017
dbSNP: rs4759314
rs4759314
HOTAIR
0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93
CUI: C0684337
Disease: Ewings sarcoma-primitive neuroectodermal tumor (PNET)
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 		0.010 1.000 1 2019 2019